Studies on Detection Algorism of Asymptomatic Hereditary Disorders.
| Project/Area Number |
60571103
|
|---|
| Research Category |
Grant-in-Aid for General Scientific Research (C)
|
| Allocation Type | Single-year Grants |
|---|
| Research Field |
Laboratory medicine
|
|---|
| Research Institution | Hamamatsu University, School of Medicine |
|---|
Principal Investigator |
KANNO Takashi Department of Laboratory Medicine, Hamamatsu University School of Medicine, Professor, 医学部, 教授 (70051406)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
KOYAMA Teruo Department of Medical Information, Hamamatsu University, School of Medicine, Ass, 医学部附属病院, 助教授 (80124410)
|
|---|
| Project Period (FY) |
1985 – 1986
|
| Project Status |
Completed (Fiscal Year 1986)
|
| Budget Amount *help |
¥1,800,000 (Direct Cost: ¥1,800,000)
Fiscal Year 1986: ¥600,000 (Direct Cost: ¥600,000)
Fiscal Year 1985: ¥1,200,000 (Direct Cost: ¥1,200,000)
|
|---|
| Keywords | Hereditary Disorders / Lactate Dehydrogenase / 乳酸脱水素酵素Mサブユニット |
|---|
| Research Abstract |
Symptomless hereditary disorders involve diseases in which patients did not complain any clinical symptoms, but their laboratory data were out of reference ranges. Lactate dehydrogenase(LD) H subunit deficienciy is one of the typical symptomless hereditary disorders which could not be found from patient's clinical complaints. However, M subunit deficiency of LD does not show any complaint under ordinary life. The patients with LD M subunit deficiency latently suffer a renal failure followed by exertional myoglobinuria or a difficult delivery. Thus, the detection and forecast of these symptomless but latent hereditary disorders are very important in the field of clinical chemistry. In this report, the detection algorism of these hereditary disorders from laboratory routine data were studied and the efficiency of the algorism was discussed.
Lower outliers from reference intervals of LD were analyzed H/M ratio of LD isoenzymes in red blood cell. From 46 outliers of LD activities, 18 carrie
… More
rs of H subunit deficiency of LD were detected. The efficiency of this algorism was 39.1 per cent and expected frequency of the carriers of H subunit deficiency was 0.1 % and about half of that obtained from mass screening of this area. In contrast, only 3 cases of carrier individual of M subunit deficiency were found from this algorism. Furthermore chemometrical analysis might be required for the detection of carrier of LD M subunit deficiency.
Recently, the third family of complete deficiency of LD M subunit was reported. Then, characteristics of clinical features in this disorder were summarized. The manifest feature appeared in male is exertional myoglobinuria and in female is difficult delivery. The most effective and non-invasive laboratory diagnosis is isoenzyme analysis of LD in serum and red blood cell. The LD M subunit deficiency does not show any symptom under ordinary circumstances, but is a latent hereditary disorder, now recognized as new type of hereditary exertional myoglobinuria. Less
|
Report
(1 results)
Research Products
(13 results)
